Today I will be explaining which autoimmune diseases fit into the category of rare and what does rare actually mean?
The European Union considers any disease to be rare when it affects less than 1 in 2,000 people. They estimate that rare diseases currently affect 3.5% - 5.9% of the worldwide population, an estimated 30 million people in Europe and 300 million worldwide.
There are currently almost 7,000 rare diseases listed by the NIH. But these are not all autoimmune diseases.
Rare autoimmune diseases are any autoimmune disease that affects less than 1 in 2,000 people. Examples include Antiphospholipid Syndrome, Takayasu arteritis and Lambert-Eaton Myasthenic Syndrome or LEMS.
Estimating the global prevalence of rare autoimmune diseases is challenging because of the diversity of the data. This would include reviewing case reports, patient registries, U.S. databases, E.U. databases, expert opinions, and reviews. This is a large undertaking so I have listed the ones that are definitely known to be rare:
- Acute Hemorrhagic Leukoencephalitis (AHLE)
- Addison's disease
- Antiphospholipid Syndrome (APS)
- Autoimmune hemolytic anemias
- Autoimmune Polyendocrine Syndrome Type II
- Autoimmune pulmonary alveolar proteinosis
- Autosomal Recessive Hyper IgE Syndrome
- Balo Disease
- Behçet's Syndrome
- Bullous Pemphigoid
- Cogan's syndrome
- Cold agglutinin disease (CAD)
- Dermatitis Herpetiformis (DH)
- Lambert-Eaton Myasthenic Syndrome
- Mucous Membrane Pemphigoid
- Mixed connective tissue disease (MCTD)
- Neonatal Lupus
Pemphigus and Pemphigoid
- Primary Biliary Cholangitis
- Primary Sclerosing Cholangitis (PSC)
- Pernicious Anemia
- Takayasu arteritis